NADH cytochrome B5 reductase deficiency

Preferred Label : NADH cytochrome B5 reductase deficiency;

CISMeF synonym : Nadh-Cytochrome B5 reductase deficiency, type I; Nadh-Cytochrome B5 reductase deficiency, type ii; methemoglobinemia, type I; methemoglobinemia, type ii;

MeSH synonym : methemoglobinemia due to deficiency of methemoglobin reductase; NADH methemoglobin reductase deficiency; NADH-dependent methemoglobin reductase deficiency; diaphorase deficiency; NADH diaphorase deficiency; Nadh-Cytochrome B5 reductase deficiency; methemoglobinemia, congenital, autosomal recessive;

Details

Origin ID

C537841;

UMLS CUI

C0268193;

Automatic exact mappings (from CISMeF team)
- Dihydrolipoamide dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Pyruvate dehydrogenase E3-binding protein deficiency [ORDO Disease]
- Pyruvate dehydrogenase complex E3 subunit deficiency [ICD-11 More detail]
CISMeF manual mappings
- Deficiency of cytochrome-b>5< reductase (disorder) [SNOMED CT concept]
- cytochrome-b reductase deficiency [SNOMED Notion]
Currated CISMeF NLP mapping
- Autosomal recessive congenital methemoglobinemia (disorder) [SNOMED CT concept]
- Methemoglobin Reductase Deficiency [NCIt concept]
- Methemoglobinemia due to deficiency of methemoglobin reductase [OMIM Phenotype]
- NADH cytochrome b5 reductase deficiency [MedDRA LLT]
MeSH term(s) associated for indexing
- Cytochrome-B(5) reductase [MeSH Descriptor]
- methemoglobinemia [MeSH Descriptor]
Record concept(s)
- NADH cytochrome B5 reductase deficiency [MeSH concept]
- Nadh-Cytochrome B5 reductase deficiency, type I [MeSH concept]
- Nadh-Cytochrome B5 reductase deficiency, type ii [MeSH concept]
- methemoglobinemia, type I [MeSH concept]
- methemoglobinemia, type ii [MeSH concept]
See also inter- (CISMeF)
- Recessive hereditary methemoglobinemia type 1 [ORDO Disease]
- Recessive hereditary methemoglobinemia type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive congenital methemoglobinemia (disorder) [SNOMED CT concept]
- Deficiency of cytochrome-b>5< reductase (disorder) [SNOMED CT concept]
- Dihydrolipoamide dehydrogenase deficiency [OMIM Phenotype]
- Dihydrolipoamide dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Methemoglobinemia due to deficiency of methemoglobin reductase [OMIM Phenotype]
- NADH cytochrome b5 reductase deficiency [MedDRA LLT]
- cytochrome-b reductase deficiency [SNOMED Notion]
- dihydrolipoamide dehydrogenase deficiency [SNOMED Notion]
Validated automatic mappings to NTBT
- methemoglobinemia type I [Disease (Nov.)]
- methemoglobinemia type II [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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